Downstream intronic splicing enhancers

Alternative splicing leads to multiple proteins from individual genes and the most common deviation from the norm is precise exon omission. Mutations that cause this can be found deep in introns, especially downstream of the cassette exon. This review summarises what is known about these intronic splicing enhancers and their RNA-binding proteins that cause spliceosome assembly on the upstream exon. (c) 2007 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.